MRPL38
gene geneOn this page
Also known as RPML3MRP-L3HSPC262MGC4810mL38
Summary
MRPL38 (mitochondrial ribosomal protein L38, HGNC:14033) is a protein-coding gene on chromosome 17q25.1, encoding Large ribosomal subunit protein mL38 (Q96DV4). It is a selective cancer dependency (DepMap: 81.0% of cell lines).
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein.
Source: NCBI Gene 64978 — RefSeq curated summary.
At a glance
- Gene–disease (curated): mitochondrial disease (Limited, ClinGen)
- GWAS associations: 2
- Clinical variants (ClinVar): 79 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 81.0% of screened cell lines
- MANE Select transcript:
NM_032478
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14033 |
| Approved symbol | MRPL38 |
| Name | mitochondrial ribosomal protein L38 |
| Location | 17q25.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RPML3, MRP-L3, HSPC262, MGC4810, mL38 |
| Ensembl gene | ENSG00000204316 |
| Ensembl biotype | protein_coding |
| OMIM | 611844 |
| Entrez | 64978 |
Gene structure
Transcript identifiers
Ensembl transcripts: 26 — 11 retained_intron, 10 protein_coding, 5 protein_coding_CDS_not_defined
ENST00000309352, ENST00000410030, ENST00000461602, ENST00000464758, ENST00000471434, ENST00000474548, ENST00000477023, ENST00000477371, ENST00000477736, ENST00000480203, ENST00000483393, ENST00000486101, ENST00000493104, ENST00000493383, ENST00000494179, ENST00000585475, ENST00000588620, ENST00000884825, ENST00000884827, ENST00000884829, ENST00000922024, ENST00000922025, ENST00000922026, ENST00000957221, ENST00000957222, ENST00000957223
RefSeq mRNA: 1 — MANE Select: NM_032478
NM_032478
CCDS: CCDS11733
Canonical transcript exons
ENST00000309352 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001295882 | 75904809 | 75904884 |
| ENSE00001352100 | 75898644 | 75898986 |
| ENSE00003459321 | 75902020 | 75902154 |
| ENSE00003481404 | 75901201 | 75901273 |
| ENSE00003499490 | 75904540 | 75904719 |
| ENSE00003524869 | 75901712 | 75901920 |
| ENSE00003556659 | 75900982 | 75901027 |
| ENSE00003599355 | 75899516 | 75899674 |
| ENSE00003646259 | 75899158 | 75899294 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 97.53.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.0102 / max 188.0957, expressed in 1811 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 168138 | 32.7853 | 1806 |
| 168140 | 2.7187 | 1479 |
| 168139 | 1.0193 | 695 |
| 168137 | 0.4869 | 272 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 97.53 | gold quality |
| apex of heart | UBERON:0002098 | 97.49 | gold quality |
| gastrocnemius | UBERON:0001388 | 97.37 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 97.37 | gold quality |
| cerebellum | UBERON:0002037 | 97.35 | gold quality |
| cerebellar cortex | UBERON:0002129 | 97.35 | gold quality |
| pituitary gland | UBERON:0000007 | 97.31 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 97.13 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 97.05 | gold quality |
| adenohypophysis | UBERON:0002196 | 97.04 | gold quality |
| heart left ventricle | UBERON:0002084 | 97.00 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 96.98 | gold quality |
| right uterine tube | UBERON:0001302 | 96.95 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 96.90 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 96.86 | gold quality |
| fundus of stomach | UBERON:0001160 | 96.84 | gold quality |
| muscle of leg | UBERON:0001383 | 96.83 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 96.82 | gold quality |
| body of uterus | UBERON:0009853 | 96.82 | gold quality |
| metanephros cortex | UBERON:0010533 | 96.74 | gold quality |
| right lobe of liver | UBERON:0001114 | 96.70 | gold quality |
| right adrenal gland | UBERON:0001233 | 96.70 | gold quality |
| left ovary | UBERON:0002119 | 96.66 | gold quality |
| tibial nerve | UBERON:0001323 | 96.65 | gold quality |
| endocervix | UBERON:0000458 | 96.63 | gold quality |
| right testis | UBERON:0004534 | 96.61 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 96.61 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 96.60 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 96.60 | gold quality |
| lower esophagus | UBERON:0013473 | 96.59 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.63 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
5 targeting MRPL38, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-12123 | 99.52 | 71.79 | 2990 |
| HSA-MIR-31-5P | 98.58 | 68.35 | 1239 |
| HSA-MIR-6882-3P | 98.23 | 67.01 | 1119 |
| HSA-MIR-96-3P | 97.47 | 68.03 | 839 |
| HSA-MIR-2861 | 95.24 | 65.47 | 1056 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 81.0% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 1)
- A Multi-Trait Approach Identified Genetic Variants Including a Rare Mutation in RGS3 with Impact on Abnormalities of Cardiac Structure/Function. (PMID:30971721)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mrpl38 | ENSDARG00000039667 |
| mus_musculus | Mrpl38 | ENSMUSG00000020775 |
| rattus_norvegicus | Mrpl38 | ENSRNOG00000008256 |
| drosophila_melanogaster | mRpL38 | FBGN0030552 |
| caenorhabditis_elegans | mrpl-38 | WBGENE00021327 |
Paralogs (2): PEBP1 (ENSG00000089220), PEBP4 (ENSG00000134020)
Protein
Protein identifiers
Large ribosomal subunit protein mL38 — Q96DV4 (reviewed: Q96DV4)
Alternative names: 39S ribosomal protein L38, mitochondrial
All UniProt accessions (1): Q96DV4
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Component of the mitochondrial large ribosomal subunit (mt-LSU). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins. mL38 is located at the central protuberance.
Subcellular location. Mitochondrion.
Similarity. Belongs to the phosphatidylethanolamine-binding protein family. Mitochondrion-specific ribosomal protein mL38 subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96DV4-1 | 1 | yes |
| Q96DV4-2 | 2 |
RefSeq proteins (1): NP_115867* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008914 | PEBP | Family |
| IPR035810 | PEBP_euk | Family |
| IPR036610 | PEBP-like_sf | Homologous_superfamily |
Pfam: PF01161
UniProt features (34 total): strand 12, helix 11, turn 5, sequence variant 2, transit peptide 1, chain 1, coiled-coil region 1, splice variant 1
Structure
Experimental structures (PDB)
86 structures, top 30 by resolution.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7OF0 | ELECTRON MICROSCOPY | 2.2 |
| 7QI4 | ELECTRON MICROSCOPY | 2.21 |
| 8RRI | ELECTRON MICROSCOPY | 2.4 |
| 8QU5 | ELECTRON MICROSCOPY | 2.42 |
| 9OLF | ELECTRON MICROSCOPY | 2.46 |
| 7OF7 | ELECTRON MICROSCOPY | 2.5 |
| 7PO4 | ELECTRON MICROSCOPY | 2.56 |
| 6ZM6 | ELECTRON MICROSCOPY | 2.59 |
| 7O9M | ELECTRON MICROSCOPY | 2.6 |
| 7OF6 | ELECTRON MICROSCOPY | 2.6 |
| 9CN3 | ELECTRON MICROSCOPY | 2.62 |
| 7QI5 | ELECTRON MICROSCOPY | 2.63 |
| 7OF2 | ELECTRON MICROSCOPY | 2.7 |
| 7OF3 | ELECTRON MICROSCOPY | 2.7 |
| 7OF4 | ELECTRON MICROSCOPY | 2.7 |
| 8QU1 | ELECTRON MICROSCOPY | 2.74 |
| 9PR4 | ELECTRON MICROSCOPY | 2.77 |
| 9PRA | ELECTRON MICROSCOPY | 2.83 |
| 8ANY | ELECTRON MICROSCOPY | 2.85 |
| 6ZM5 | ELECTRON MICROSCOPY | 2.89 |
| 7QH7 | ELECTRON MICROSCOPY | 2.89 |
| 7ODR | ELECTRON MICROSCOPY | 2.9 |
| 7OF5 | ELECTRON MICROSCOPY | 2.9 |
| 8K2A | ELECTRON MICROSCOPY | 2.9 |
| 8OIT | ELECTRON MICROSCOPY | 2.9 |
| 9PGL | ELECTRON MICROSCOPY | 2.9 |
| 9PGF | ELECTRON MICROSCOPY | 2.93 |
| 6VMI | ELECTRON MICROSCOPY | 2.96 |
| 6VLZ | ELECTRON MICROSCOPY | 2.97 |
| 7QI6 | ELECTRON MICROSCOPY | 2.98 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96DV4-F1 | 82.80 | 0.46 |
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-5368286 | Mitochondrial translation initiation |
| R-HSA-5389840 | Mitochondrial translation elongation |
| R-HSA-5419276 | Mitochondrial translation termination |
| R-HSA-9937383 | Mitochondrial ribosome-associated quality control |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-5368287 | Mitochondrial translation |
| R-HSA-72766 | Translation |
MSigDB gene sets: 102 (showing top):
GGGNRMNNYCAT_UNKNOWN, GOBP_MITOCHONDRIAL_TRANSLATION, GOBP_TRANSLATION, GOCC_MITOCHONDRIAL_ENVELOPE, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, GATGKMRGCG_UNKNOWN, GOCC_LARGE_RIBOSOMAL_SUBUNIT, GOCC_RIBOSOME, GOCC_ORGANELLAR_RIBOSOME, GOCC_MITOCHONDRIAL_MATRIX, GOCC_ORGANELLE_INNER_MEMBRANE, SANSOM_APC_MYC_TARGETS, SANSOM_APC_TARGETS_REQUIRE_MYC, GOCC_RIBOSOMAL_SUBUNIT, GOCC_RIBONUCLEOPROTEIN_COMPLEX
GO Biological Process (1): mitochondrial translation (GO:0032543)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (6): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial large ribosomal subunit (GO:0005762), cytosol (GO:0005829), ribosome (GO:0005840), ribonucleoprotein complex (GO:1990904)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Mitochondrial translation | 4 |
| Translation | 1 |
| Metabolism of proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 2 |
| mitochondrion | 1 |
| translation | 1 |
| mitochondrial gene expression | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| organellar large ribosomal subunit | 1 |
| mitochondrial ribosome | 1 |
| mitochondrial protein-containing complex | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
2902 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRPL38 | TRIM47 | Q96LD4 | 657 |
| MRPL38 | FBF1 | Q8TES7 | 619 |
| MRPL38 | TRIM65 | Q6PJ69 | 612 |
| MRPL38 | MRPS27 | Q92552 | 608 |
| MRPL38 | WBP2 | Q969T9 | 581 |
| MRPL38 | DAP3 | P51398 | 574 |
| MRPL38 | MRPL10 | Q7Z7H8 | 566 |
| MRPL38 | MRPL19 | P49406 | 542 |
| MRPL38 | MRPL40 | Q9NQ50 | 529 |
| MRPL38 | MRPL52 | Q86TS9 | 521 |
| MRPL38 | MRPL4 | Q9BYD3 | 499 |
| MRPL38 | MRPS10 | P82664 | 488 |
| MRPL38 | MRPL1 | Q9BYD6 | 473 |
| MRPL38 | ERMP1 | Q7Z2K6 | 456 |
| MRPL38 | MRPL41 | Q8IXM3 | 455 |
IntAct
204 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PIK3CA | PIK3R2 | psi-mi:“MI:0914”(association) | 0.900 |
| MRPL18 | MRPL38 | psi-mi:“MI:0915”(physical association) | 0.800 |
| MRPL38 | MRPL18 | psi-mi:“MI:0915”(physical association) | 0.800 |
| YBX1 | HNRNPR | psi-mi:“MI:0914”(association) | 0.770 |
| GADD45GIP1 | MRPL38 | psi-mi:“MI:0915”(physical association) | 0.740 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| MRPS30 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.640 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| MRPL38 | RPL13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MRPL38 | MRPL52 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BEX2 | MRPL38 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC120 | MRPL38 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RALY | MRPL38 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MRPL38 | GOLGA6A | psi-mi:“MI:0915”(physical association) | 0.560 |
| BAG3 | MRPL38 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MYOZ3 | MRPL38 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MRPL38 | CCDC120 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PPP1R18 | MRPL38 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSEN54 | MRPL38 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MKRN3 | MRPL38 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CENATAC | MRPL38 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MRPL38 | ARHGAP9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LONRF1 | MRPL38 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MRPL38 | BEX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (358): DOCK8 (Two-hybrid), MRPL38 (Affinity Capture-MS), MRPL38 (Affinity Capture-MS), MRPL38 (Affinity Capture-MS), MRPL38 (Affinity Capture-MS), MRPL38 (Affinity Capture-MS), MRPL38 (Affinity Capture-MS), MRPL38 (Affinity Capture-MS), MRPL38 (Affinity Capture-MS), MRPL38 (Affinity Capture-MS), MRPL38 (Affinity Capture-MS), MRPL38 (Affinity Capture-MS), MRPL38 (Affinity Capture-MS), MRPL38 (Co-fractionation), MRPL38 (Co-fractionation)
ESM2 similar proteins: A2T7D9, B0S8I0, B3DL53, D3Z4S3, O00142, O00746, O35385, O43304, O75038, O75414, O88425, O88426, P42898, P56597, P87355, Q05B52, Q09M05, Q14994, Q1LX49, Q3SZ85, Q3ZBF3, Q4FZX0, Q4KLI9, Q4U2V3, Q4V7A9, Q5CZL1, Q5EBA1, Q5PQN9, Q5XGM5, Q60HE5, Q6AYQ3, Q6DGQ8, Q6DI51, Q6GMV3, Q80YD1, Q810A5, Q8HY87, Q8NFF5, Q969U6, Q96DV4
Diamond homologs: A0A0Q3IBS1, I1H0V9, O16264, O82088, P13696, P30086, P31044, P31729, P48737, P54185, P54186, P54187, P54188, P54190, P70296, Q06252, Q3YIX4, Q3ZBF3, Q41261, Q5PQN9, Q5R4R0, Q5RDL7, Q5UR88, Q656A5, Q8K2M0, Q8MK67, Q8VIN1, Q8VWH2, Q93WI9, Q96DV4, Q96S96, Q9ASJ1, Q9D9G2, Q9FIT4, Q9S7R5, Q9SXZ2, Q9X9Z8, Q9XFK7, Q9XH42, Q9XH43
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MRPL38 | “form complex” | “39S mitochondrial large ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 153 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Mitochondrial ribosome-associated quality control | 35 | 39.8× | 5e-46 |
| Mitochondrial translation | 30 | 38.2× | 5e-39 |
| Mitochondrial translation initiation | 32 | 37.6× | 3e-41 |
| Mitochondrial translation elongation | 32 | 37.6× | 3e-41 |
| Mitochondrial translation termination | 32 | 32.5× | 5e-39 |
| Translation | 32 | 18.4× | 2e-30 |
| Peptide chain elongation | 9 | 10.6× | 8e-06 |
| Viral mRNA Translation | 9 | 10.6× | 8e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial large ribosomal subunit assembly | 6 | 44.4× | 5e-07 |
| mitochondrial translation | 34 | 44.1× | 4e-45 |
| translation | 27 | 20.7× | 1e-25 |
| cytoplasmic translation | 10 | 13.8× | 5e-07 |
| negative regulation of translation | 9 | 13.2× | 4e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
79 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 66 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1134 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:75898982:CATGT:C | acceptor_gain | 1.0000 |
| 17:75898984:TGT:T | acceptor_gain | 1.0000 |
| 17:75898987:C:CC | acceptor_gain | 1.0000 |
| 17:75899153:CTTA:C | donor_loss | 1.0000 |
| 17:75899155:TACCC:T | donor_loss | 1.0000 |
| 17:75899156:A:AC | donor_gain | 1.0000 |
| 17:75899156:AC:A | donor_gain | 1.0000 |
| 17:75899156:ACC:A | donor_gain | 1.0000 |
| 17:75899157:C:CA | donor_gain | 1.0000 |
| 17:75899157:CC:C | donor_gain | 1.0000 |
| 17:75899157:CCC:C | donor_gain | 1.0000 |
| 17:75899157:CCCA:C | donor_gain | 1.0000 |
| 17:75899157:CCCAG:C | donor_gain | 1.0000 |
| 17:75899290:GATAG:G | acceptor_gain | 1.0000 |
| 17:75899291:ATAG:A | acceptor_gain | 1.0000 |
| 17:75899292:TAG:T | acceptor_gain | 1.0000 |
| 17:75899293:AG:A | acceptor_gain | 1.0000 |
| 17:75899295:C:CC | acceptor_gain | 1.0000 |
| 17:75899297:A:AC | acceptor_gain | 1.0000 |
| 17:75899297:A:C | acceptor_gain | 1.0000 |
| 17:75899305:A:AC | acceptor_gain | 1.0000 |
| 17:75899305:A:C | acceptor_gain | 1.0000 |
| 17:75899534:T:TA | donor_gain | 1.0000 |
| 17:75899675:C:CC | acceptor_gain | 1.0000 |
| 17:75901707:GTTA:G | donor_loss | 1.0000 |
| 17:75901709:TAC:T | donor_loss | 1.0000 |
| 17:75901710:A:T | donor_loss | 1.0000 |
| 17:75901711:C:T | donor_loss | 1.0000 |
| 17:75901916:ACTGG:A | acceptor_loss | 1.0000 |
| 17:75901917:CTGG:C | acceptor_gain | 1.0000 |
AlphaMissense
2443 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:75901225:A:G | W214R | 0.975 |
| 17:75901225:A:T | W214R | 0.975 |
| 17:75901273:C:G | A198P | 0.969 |
| 17:75901802:A:C | F167L | 0.969 |
| 17:75901802:A:T | F167L | 0.969 |
| 17:75901804:A:G | F167L | 0.969 |
| 17:75898967:A:C | F342L | 0.968 |
| 17:75898967:A:T | F342L | 0.968 |
| 17:75898969:A:G | F342L | 0.968 |
| 17:75899270:G:C | F298L | 0.963 |
| 17:75899270:G:T | F298L | 0.963 |
| 17:75899272:A:G | F298L | 0.963 |
| 17:75899567:A:G | F273S | 0.963 |
| 17:75898922:G:C | F357L | 0.961 |
| 17:75898922:G:T | F357L | 0.961 |
| 17:75898924:A:G | F357L | 0.961 |
| 17:75899171:G:C | F331L | 0.958 |
| 17:75899171:G:T | F331L | 0.958 |
| 17:75899173:A:G | F331L | 0.958 |
| 17:75900985:A:G | L236P | 0.956 |
| 17:75899207:G:C | F319L | 0.952 |
| 17:75899207:G:T | F319L | 0.952 |
| 17:75899209:A:G | F319L | 0.952 |
| 17:75899277:C:G | R296P | 0.950 |
| 17:75899203:A:G | C321R | 0.948 |
| 17:75901205:G:C | S220R | 0.948 |
| 17:75901205:G:T | S220R | 0.948 |
| 17:75901207:T:G | S220R | 0.948 |
| 17:75899197:A:G | W323R | 0.947 |
| 17:75899197:A:T | W323R | 0.947 |
dbSNP variants (sampled 300 via entrez): RS1000162227 (17:75898241 C>T), RS1000754049 (17:75902352 C>G), RS1000821356 (17:75903667 G>A), RS1000938712 (17:75906646 C>A,T), RS1000949590 (17:75900506 G>A), RS1001067231 (17:75900823 G>A,T), RS1001123895 (17:75902553 C>T), RS1001663576 (17:75902944 C>T), RS1001871615 (17:75901983 C>A), RS1003344998 (17:75904790 A>C,G,T), RS1003511447 (17:75900889 T>C), RS1003543056 (17:75900613 C>T), RS1003576417 (17:75898645 C>A,T), RS1003691519 (17:75906853 C>T), RS1003895262 (17:75905235 A>G)
Disease associations
OMIM: gene MIM:611844 | disease phenotypes:
GenCC curated gene-disease
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| mitochondrial disease | Limited | AR |
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST012580_7 | White matter hyperintensities | 3.000000e-08 |
| GCST012580_8 | White matter hyperintensities | 1.000000e-07 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005665 | white matter hyperintensity measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067246 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.91 | Kd | 12.32 | nM | CHEMBL5653589 |
| 7.91 | ED50 | 12.32 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148773: Binding affinity to human MRPL38 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0123 | uM |
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation, increases expression | 2 |
| Smoke | decreases expression, increases abundance, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| alpha-pinene | increases abundance, affects cotreatment, increases oxidation | 1 |
| beta-lapachone | decreases expression | 1 |
| sodium arsenite | increases abundance, increases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| corosolic acid | decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Acrolein | increases oxidation, increases abundance, affects cotreatment | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Dimethyl Sulfoxide | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Ozone | increases oxidation, increases abundance, affects cotreatment | 1 |
| Phthalic Acids | increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Sodium Dodecyl Sulfate | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Cadmium Chloride | increases abundance, increases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Volatile Organic Compounds | affects cotreatment, increases oxidation | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651815 | Binding | Binding affinity to human MRPL38 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: mitochondrial disease